Canonical Allele Identifier: CA395062408
Gene: OTOA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.21728377A>C , CM000678.2:g.21728377A>C GRCh38
NC_000016.9:g.21739698A>C , CM000678.1:g.21739698A>C GRCh37
NC_000016.8:g.21647199A>C NCBI36
NG_012973.1:g.54864A>C
NG_012973.2:g.69245A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000388958.8:c.2153A>C ENSP00000373610.3:p.Asp718Ala
ENST00000646100.2:c.2153A>C MANE Select ENSP00000496564.2:p.Asp718Ala
ENST00000647277.1:c.*967A>C ENSP00000495594.1:n.*967A>C
ENST00000286149.8:c.2195A>C ENSP00000286149.4:p.Asp732Ala
ENST00000388956.8:c.1916A>C ENSP00000373608.4:p.Asp639Ala
ENST00000388957.3:c.1181A>C ENSP00000373609.3:p.Asp394Ala
ENST00000388958.7:c.2153A>C ENSP00000373610.3:p.Asp718Ala
ENST00000563871.5:n.1616A>C
NM_001161683.1:c.1916A>C NP_001155155.1:p.Asp639Ala
NM_144672.3:c.2153A>C NP_653273.3:p.Asp718Ala
NM_170664.2:c.1181A>C NP_733764.1:p.Asp394Ala
XM_011545747.1:c.2153A>C XP_011544049.1:p.Asp718Ala
XM_011545748.1:c.1022A>C XP_011544050.1:p.Asp341Ala
NM_144672.4:c.2153A>C MANE Select NP_653273.3:p.Asp718Ala
XM_011545748.2:c.1022A>C XP_011544050.2:p.Asp341Ala
XM_017022951.1:c.419A>C XP_016878440.1:p.Asp140Ala
XR_002957775.1:n.1248A>C
NM_001161683.2:c.1916A>C NP_001155155.1:p.Asp639Ala
NM_170664.3:c.1181A>C NP_733764.1:p.Asp394Ala